Levi laughs with his doctor, Joseph Sullivan, at the UCSF Pediatric Epilepsy Center of Excellence.


Dr. Joseph Sullivan, Levi's epilepsy specialist.

One Family's Struggle with Drug-Resistant Epilepsy

In many ways Levi is a typical 10-year-old boy who lives for Legos, video games, Pixar movies and Disneyland.

But Levi's high-fat diet, an eating plan associated more with the Atkins craze of the early 2000s than with active young kids, provides a window into the medical issues he's been coping with since toddlerhood.

"Every time we make him a meal, we have to first think of a fat — the meal should always be glistening," says Levi's mom, Karen Valentine. "The most important thing in our lives became heavy cream and guacamole."

At age 2 Levi was diagnosed with Myoclonic Astatic Epilepsy (MAE), or Doose syndrome, a form of epilepsy characterized by seizures that are difficult to manage. For more than a year, he has followed a ketogenic diet, which is high in fat, while low in carbohydrates and protein, to help manage the condition.

Children with the MAE may experience drop seizures — when the muscles go limp, often causing a fall — or "staring seizures," which cause the patient to stare without moving for about 15 minutes.

The condition has no known cause and often proves resistant to medication, making it difficult to treat.

"There’s often not a quick fix," says Dr. Joseph Sullivan, a pediatric epileptologist at UCSF Benioff Children's Hospital San Francisco who specializes in treating children with epilepsy that does not respond to medication. "It does require a lot of patience to try a medication, go slowly and not give up quickly. It requires the family and the physician to not be bull-headed."

For seven years, medication worked fairly well to manage Levi's condition, but at age 9 his seizures reemerged with a vengeance. So far, he has taken nine different drugs.

Complex conditions like Levi’s, which evolve over time and are resistant to medication, require a long-term partnership with a team of specialists, like those at the UCSF Pediatric Epilepsy Center of Excellence.

"Our skill set is identifying some of these uncommon epilepsy syndromes," Sullivan says. "Where that's helpful is it gives families this peace of mind because we have seen this before, and you can go down a systematic treatment path."

Unfortunately an attempt to wean Levi off one drug brought about a resurgence of seizures, which can occur in complex cases of epilepsy. On Valentine's Day 2016, Levi was admitted to the hospital due to the severity and frequency of his seizures.

On the 17th, Karen posted a Facebook update from UCSF: "[Levi's] exhausted, frustrated and super sad," she wrote. "So many brilliant neurologists are teamed up to sort out this mess."

In addition to the seizures Levi was experiencing, doctors found a "busy" background of brain activity on his electroencephalogram (EEG) test, meaning his threshold for seizure was low.

By the seventh day at UCSF, Levi began improving, feeling more like himself a few hours each day and visiting the hospital’s playroom to read books. But the doctors continued to administer doses of steroids in hopes of "rebooting" Levi's brain and allowing the medications to take effect.

"We are amazed at how diligent they are in leaving no stone unturned in their quest to resolve this," Karen wrote at the time.

That month Sullivan was able to get Levi's family's insurance company to approve genetic testing that might reveal a source of the epilepsy.

"It did show a gene mutation on the MBD5 gene," Sullivan says. Unfortunately, precisely how this gene mutation contributes to epilepsy remains unknown, but Sullivan feels confident it's the source of Levi's condition.

"It's not the crystal ball for him," Sullivan says. "He doesn't really resemble the other kids who have been described in the literature with this gene. He doesn’t fit into one of those specific boxes."

In total, Levi spent nine days at UCSF and has returned four times for overnight visits. Despite the challenges of managing her son's difficult illness, Karen describes her experience at UCSF as "incredible," from the celebrity visits to the care and concern of the staff. She offers special praise for Sullivan and Dr. Nilika Singhal, another epileptologist at the center.

"The only thing bigger than their brains is their hearts," Karen says. "They genuinely care about the kids, their families, their futures and actively taking part in solving each personal epilepsy mystery. They treat kids and families with authentic respect."

Since last April, Levi has followed his ketogenic meal plan, which elevates ketones that the body will use for fuel in the absence of carbohydrates. According to some studies, the diet may reduce the number of seizures in kids with medication-resistant epilepsy.

For four months the diet kept Levi’s seizures at bay, and the family has decided to continue following it despite the reemergence of seizures.

Meanwhile, Sullivan and the team at UCSF continue to monitor Levi's condition, while the family researches cannabidiol, a cannabis-based treatment that has helped some patients with epilepsy. Levi's EEG has improved dramatically, but he continues to have seizures about every week and a half.

"He’s doing great in some ways and not so well in others, which is often the case," Karen says. "The goal is always zero seizures, zero side effects."

Karen offers the following advice for other families navigating epilepsy or other difficult illnesses:

  • Take care of yourself, including diet and exercise
  • Make time for coping strategies, like journaling and other activities that reduce stress
  • Support other caregivers in your household
  • Strive for a one-day-at-a-time attitude to avoid becoming overwhelmed
  • Keep up with medical research on your condition and talk to your doctors
  • Explore online and local support groups and foundations that focus on your condition

"Hugs are healing, so is good food, friends and a walk outside when possible," Karen says. "Combine that with the stellar, kind, caring staff at UCSF, and we are well supported. UCSF truly understands the value of human connection in the healing process."

Story by freelance writer Emily Udell. Photos by Jessica Bernstein-Wax.